ClinVar Miner

List of variants in gene FLNA, LOC107988032 studied for obsolete Ehlers-Danlos syndrome with periventricular heterotopia

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 125
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HGVS dbSNP gnomAD frequency
NM_001110556.2(FLNA):c.7686C>T (p.Ala2562=) rs76337075 0.00219
NM_001110556.2(FLNA):c.7756+8A>G rs201663443 0.00057
NM_001110556.2(FLNA):c.7568G>A (p.Ser2523Asn) rs782555930 0.00014
NM_001110556.2(FLNA):c.7903G>A (p.Glu2635Lys) rs369717556 0.00010
NM_001110556.2(FLNA):c.7596A>G (p.Ser2532=) rs200694807 0.00009
NM_001110556.2(FLNA):c.7756+19C>T rs781867343 0.00009
NM_001110556.2(FLNA):c.7756+20G>A rs782395246 0.00009
NM_001110556.2(FLNA):c.7927C>T (p.Arg2643Cys) rs200836471 0.00006
NM_001110556.2(FLNA):c.7564G>A (p.Val2522Ile) rs187774579 0.00005
NM_001110556.2(FLNA):c.7900G>C (p.Asp2634His) rs782341270 0.00005
NM_001110556.2(FLNA):c.7725G>A (p.Lys2575=) rs782375435 0.00004
NM_001110556.2(FLNA):c.7776G>C (p.Val2592=) rs369380495 0.00004
NM_001110556.2(FLNA):c.7649C>T (p.Pro2550Leu) rs371724771 0.00003
NM_001110556.2(FLNA):c.7656T>A (p.Pro2552=) rs367666924 0.00003
NM_001110556.2(FLNA):c.7834C>T (p.Arg2612Trp) rs781864075 0.00003
NM_001110556.2(FLNA):c.7846G>A (p.Val2616Met) rs369791082 0.00003
NM_001110556.2(FLNA):c.7848G>C (p.Val2616=) rs782691688 0.00003
NM_001110556.2(FLNA):c.7878C>T (p.Tyr2626=) rs782774918 0.00003
NM_001110556.2(FLNA):c.7902C>T (p.Asp2634=) rs372375216 0.00003
NM_001110556.2(FLNA):c.7558C>T (p.Arg2520Cys) rs782244918 0.00002
NM_001110556.2(FLNA):c.7559G>A (p.Arg2520His) rs781959191 0.00002
NM_001110556.2(FLNA):c.7563C>T (p.Leu2521=) rs782335342 0.00002
NM_001110556.2(FLNA):c.7650G>A (p.Pro2550=) rs781905890 0.00002
NM_001110556.2(FLNA):c.7659G>C (p.Gly2553=) rs909656307 0.00002
NM_001110556.2(FLNA):c.7714G>A (p.Val2572Ile) rs782291033 0.00002
NM_001110556.2(FLNA):c.7738G>A (p.Val2580Ile) rs377518545 0.00002
NM_001110556.2(FLNA):c.7756+12G>A rs782686474 0.00002
NM_001110556.2(FLNA):c.7794G>A (p.Arg2598=) rs782372740 0.00002
NM_001110556.2(FLNA):c.7796C>A (p.Thr2599Asn) rs782593788 0.00002
NM_001110556.2(FLNA):c.7862A>G (p.Lys2621Arg) rs782302420 0.00002
NM_001110556.2(FLNA):c.7928G>A (p.Arg2643His) rs782641074 0.00002
NM_001110556.2(FLNA):c.7555C>T (p.Pro2519Ser) rs782383611 0.00001
NM_001110556.2(FLNA):c.7569C>T (p.Ser2523=) rs1557175313 0.00001
NM_001110556.2(FLNA):c.7577G>A (p.Ser2526Asn) rs1485769153 0.00001
NM_001110556.2(FLNA):c.7585G>A (p.Glu2529Lys) rs1557175308 0.00001
NM_001110556.2(FLNA):c.7604T>C (p.Val2535Ala) rs886039104 0.00001
NM_001110556.2(FLNA):c.7634C>T (p.Pro2545Leu) rs1377674951 0.00001
NM_001110556.2(FLNA):c.7637A>G (p.Gln2546Arg) rs1057520770 0.00001
NM_001110556.2(FLNA):c.7651G>C (p.Gly2551Arg) rs1557175285 0.00001
NM_001110556.2(FLNA):c.7655C>T (p.Pro2552Leu) rs1334045176 0.00001
NM_001110556.2(FLNA):c.7668C>T (p.Asp2556=) rs782784577 0.00001
NM_001110556.2(FLNA):c.7677G>A (p.Lys2559=) rs2070815 0.00001
NM_001110556.2(FLNA):c.7710C>G (p.Ala2570=) rs782709737 0.00001
NM_001110556.2(FLNA):c.7798C>A (p.Pro2600Thr) rs377322094 0.00001
NM_001110556.2(FLNA):c.7824C>T (p.His2608=) rs782530835 0.00001
NM_001110556.2(FLNA):c.7835G>A (p.Arg2612Gln) rs200883457 0.00001
NM_001110556.2(FLNA):c.7843A>G (p.Ser2615Gly) rs929704371 0.00001
NM_001110556.2(FLNA):c.7887G>A (p.Val2629=) rs376783033 0.00001
NM_001110556.2(FLNA):c.7929C>T (p.Arg2643=) rs782493799 0.00001
NM_001110556.2(FLNA):c.7553-7C>T
NM_001110556.2(FLNA):c.7554C>G (p.Gly2518=)
NM_001110556.2(FLNA):c.7554C>T (p.Gly2518=)
NM_001110556.2(FLNA):c.7556C>G (p.Pro2519Arg) rs2067602794
NM_001110556.2(FLNA):c.7564_7566del (p.Val2522del)
NM_001110556.2(FLNA):c.7579C>A (p.Leu2527Ile)
NM_001110556.2(FLNA):c.7584C>T (p.His2528=) rs201883808
NM_001110556.2(FLNA):c.7599G>A (p.Val2533=)
NM_001110556.2(FLNA):c.7605A>G (p.Val2535=)
NM_001110556.2(FLNA):c.7607A>T (p.Asp2536Val)
NM_001110556.2(FLNA):c.7612C>G (p.Leu2538Val)
NM_001110556.2(FLNA):c.7612_7613del (p.Leu2538fs) rs2067602034
NM_001110556.2(FLNA):c.7616C>T (p.Thr2539Ile)
NM_001110556.2(FLNA):c.7622C>T (p.Ala2541Val)
NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr)
NM_001110556.2(FLNA):c.7628G>T (p.Cys2543Phe)
NM_001110556.2(FLNA):c.7630G>T (p.Ala2544Ser) rs782714612
NM_001110556.2(FLNA):c.7631C>A (p.Ala2544Asp)
NM_001110556.2(FLNA):c.7633C>G (p.Pro2545Ala)
NM_001110556.2(FLNA):c.7636C>G (p.Gln2546Glu)
NM_001110556.2(FLNA):c.7636C>T (p.Gln2546Ter)
NM_001110556.2(FLNA):c.7644G>A (p.Gly2548=) rs2067601627
NM_001110556.2(FLNA):c.7645G>T (p.Ala2549Ser) rs1557175287
NM_001110556.2(FLNA):c.7653T>G (p.Gly2551=)
NM_001110556.2(FLNA):c.7660C>A (p.Pro2554Thr) rs1060500720
NM_001110556.2(FLNA):c.7664C>T (p.Ala2555Val)
NM_001110556.2(FLNA):c.7665T>C (p.Ala2555=) rs2148100398
NM_001110556.2(FLNA):c.7671C>T (p.Ala2557=) rs398123624
NM_001110556.2(FLNA):c.7673_7674delinsAG (p.Ser2558Lys)
NM_001110556.2(FLNA):c.7679T>C (p.Val2560Ala)
NM_001110556.2(FLNA):c.7713C>T (p.Tyr2571=) rs782308141
NM_001110556.2(FLNA):c.7715T>C (p.Val2572Ala)
NM_001110556.2(FLNA):c.7739T>C (p.Val2580Ala)
NM_001110556.2(FLNA):c.7756+11= rs7063300
NM_001110556.2(FLNA):c.7756+20G>T rs782395246
NM_001110556.2(FLNA):c.7756+2T>A
NM_001110556.2(FLNA):c.7756+6C>A
NM_001110556.2(FLNA):c.7757-15C>T
NM_001110556.2(FLNA):c.7757-16A>T rs1057522350
NM_001110556.2(FLNA):c.7757-20G>C
NM_001110556.2(FLNA):c.7757-5C>G
NM_001110556.2(FLNA):c.7757-5del rs2148099864
NM_001110556.2(FLNA):c.7761C>T (p.Asn2587=)
NM_001110556.2(FLNA):c.7768CTG[1] (p.Leu2591del) rs2067597172
NM_001110556.2(FLNA):c.7779G>T (p.Gly2593=)
NM_001110556.2(FLNA):c.7779_7780insTTCGGGG (p.Val2594fs) rs1557175195
NM_001110556.2(FLNA):c.7784A>C (p.His2595Pro) rs1603358284
NM_001110556.2(FLNA):c.7789C>T (p.Pro2597Ser)
NM_001110556.2(FLNA):c.7793G>A (p.Arg2598Lys)
NM_001110556.2(FLNA):c.7802G>A (p.Cys2601Tyr) rs1060500721
NM_001110556.2(FLNA):c.7803C>T (p.Cys2601=)
NM_001110556.2(FLNA):c.7817_7820del (p.Val2606fs) rs1557175175
NM_001110556.2(FLNA):c.7822C>T (p.His2608Tyr) rs781993962
NM_001110556.2(FLNA):c.7837C>G (p.Leu2613Val)
NM_001110556.2(FLNA):c.7847T>C (p.Val2616Ala) rs782411364
NM_001110556.2(FLNA):c.7848G>A (p.Val2616=)
NM_001110556.2(FLNA):c.7857G>A (p.Leu2619=) rs2148099708
NM_001110556.2(FLNA):c.7860C>G (p.Leu2620=)
NM_001110556.2(FLNA):c.7869G>A (p.Lys2623=)
NM_001110556.2(FLNA):c.7871G>C (p.Gly2624Ala)
NM_001110556.2(FLNA):c.7872_7873del (p.Glu2625fs) rs1603358246
NM_001110556.2(FLNA):c.7880C>G (p.Thr2627Arg)
NM_001110556.2(FLNA):c.7880_7883dup (p.Val2629fs)
NM_001110556.2(FLNA):c.7895G>T (p.Trp2632Leu)
NM_001110556.2(FLNA):c.7896G>A (p.Trp2632Ter) rs398122812
NM_001110556.2(FLNA):c.7896G>C (p.Trp2632Cys) rs398122812
NM_001110556.2(FLNA):c.7898_7900del (p.Gly2633del) rs863223635
NM_001110556.2(FLNA):c.7899G>A (p.Gly2633=)
NM_001110556.2(FLNA):c.7900G>T (p.Asp2634Tyr)
NM_001110556.2(FLNA):c.7908C>T (p.His2636=)
NM_001110556.2(FLNA):c.7919G>T (p.Ser2640Ile) rs1557175110
NM_001110556.2(FLNA):c.7927C>G (p.Arg2643Gly) rs200836471
NM_001110556.2(FLNA):c.7928G>C (p.Arg2643Pro) rs782641074
NM_001110556.2(FLNA):c.7930G>C (p.Val2644Leu)
NM_001110556.2(FLNA):c.7932_7934del (p.Val2646del) rs1060500715
NM_001110556.2(FLNA):c.7941_7942del (p.Ter2648SerextTer?) rs863223636

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